A novel single‐base deletional mutation of MIP impairs protein distribution and cell‐to‐cell adhesion in autosomal dominant cataracts in a Chinese family
Y Yu, Y Qiao, Y Ye, C Luo, K Yao - American Journal of Medical …, 2024 - Wiley Online Library
Congenital cataracts are the leading cause of irreversible visual disability in children, and
genetic factors play an important role in their development. In this study, targeted exome …
genetic factors play an important role in their development. In this study, targeted exome …
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant …
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder affecting 1
in 5000–8000 individuals. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is the most …
in 5000–8000 individuals. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is the most …
[HTML][HTML] Aquaporin-0-protein interactions elucidated by crosslinking mass spectrometry
CVT O'Neale, MH Tran, KL Schey - Biochemical and Biophysical Research …, 2024 - Elsevier
Abstract Aquaporin-0 (AQP0) constitutes 50% of the lens membrane proteome and plays
important roles in lens fiber cell adhesion, water permeability, and lens transparency …
important roles in lens fiber cell adhesion, water permeability, and lens transparency …
Role of actin‐binding proteins in cataract formation
Introduction Actin has been implicated in lens opacification; however, the specific actin‐
related pathways involved in cataracts remain unelucidated. In this study, actin‐related …
related pathways involved in cataracts remain unelucidated. In this study, actin‐related …
H2O2/ROS Production, Consumption, and Transport across Organelles
The compartmentalization of cell biochemistry by functionally specialized organelles is the
most significant evolutional leap toward diversifying organisms' capabilities. This transition …
most significant evolutional leap toward diversifying organisms' capabilities. This transition …